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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-144511762-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144511762&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144511762,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000617875.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3421T>C",
"hgvs_p": "p.Cys1141Arg",
"transcript": "NM_004260.4",
"protein_id": "NP_004251.4",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3421,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3470,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": "ENST00000617875.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3421T>C",
"hgvs_p": "p.Cys1141Arg",
"transcript": "ENST00000617875.6",
"protein_id": "ENSP00000482313.2",
"transcript_support_level": 1,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3421,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3470,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": "NM_004260.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2350T>C",
"hgvs_p": "p.Cys784Arg",
"transcript": "ENST00000621189.4",
"protein_id": "ENSP00000483145.1",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 851,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3547,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3496T>C",
"hgvs_p": "p.Cys1166Arg",
"transcript": "NM_001413019.1",
"protein_id": "NP_001399948.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3496,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3545,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3430T>C",
"hgvs_p": "p.Cys1144Arg",
"transcript": "NM_001413036.1",
"protein_id": "NP_001399965.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3430,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 3479,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3391T>C",
"hgvs_p": "p.Cys1131Arg",
"transcript": "NM_001413039.1",
"protein_id": "NP_001399968.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3391,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 3440,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3325T>C",
"hgvs_p": "p.Cys1109Arg",
"transcript": "NM_001413020.1",
"protein_id": "NP_001399949.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3325,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 3374,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3292T>C",
"hgvs_p": "p.Cys1098Arg",
"transcript": "NM_001413025.1",
"protein_id": "NP_001399954.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3292,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3341,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3289T>C",
"hgvs_p": "p.Cys1097Arg",
"transcript": "NM_001413033.1",
"protein_id": "NP_001399962.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3289,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3338,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3223T>C",
"hgvs_p": "p.Cys1075Arg",
"transcript": "NM_001413018.1",
"protein_id": "NP_001399947.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1142,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 3272,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3127T>C",
"hgvs_p": "p.Cys1043Arg",
"transcript": "NM_001413017.1",
"protein_id": "NP_001399946.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3127,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3070T>C",
"hgvs_p": "p.Cys1024Arg",
"transcript": "NM_001413029.1",
"protein_id": "NP_001399958.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3070,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3119,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2425T>C",
"hgvs_p": "p.Cys809Arg",
"transcript": "NM_001413023.1",
"protein_id": "NP_001399952.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 876,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 3610,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2359T>C",
"hgvs_p": "p.Cys787Arg",
"transcript": "NM_001413041.1",
"protein_id": "NP_001399970.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 854,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 3606,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2350T>C",
"hgvs_p": "p.Cys784Arg",
"transcript": "NM_001413021.1",
"protein_id": "NP_001399950.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 851,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2350T>C",
"hgvs_p": "p.Cys784Arg",
"transcript": "NM_001413022.1",
"protein_id": "NP_001399951.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 851,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3535,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2350T>C",
"hgvs_p": "p.Cys784Arg",
"transcript": "NM_001413024.1",
"protein_id": "NP_001399953.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 851,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3432,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2350T>C",
"hgvs_p": "p.Cys784Arg",
"transcript": "NM_001413028.1",
"protein_id": "NP_001399957.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 851,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2350T>C",
"hgvs_p": "p.Cys784Arg",
"transcript": "NM_001413034.1",
"protein_id": "NP_001399963.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 851,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3439,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2350T>C",
"hgvs_p": "p.Cys784Arg",
"transcript": "NM_001413035.1",
"protein_id": "NP_001399964.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 851,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3367,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2350T>C",
"hgvs_p": "p.Cys784Arg",
"transcript": "NM_001413040.1",
"protein_id": "NP_001399969.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 851,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3440,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2320T>C",
"hgvs_p": "p.Cys774Arg",
"transcript": "NM_001413042.1",
"protein_id": "NP_001399971.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 841,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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}
],
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}